| Variant ID | 18616 |
|---|---|
| Entrez Gene ID | 123036 |
| Gene | TC2N (GeneCards) |
| Location | hg19 14:92305375-92305375
hg38 14:91839031-91839031 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.92305375 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0737 |
| CADD Raw score (version 1.3) | -0.156405 (Deleterious) |
| FATHMM raw prediction score | 0.13481 (Tolerated) |
| Deleterious probability by DeFine | 0.5396 (Deleterious) |
| Entrez Gene ID | 123036 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TC2N (GeneCards) |
| Number of variants in TC2N in this database | 1 (view all the variants) |
| Full name | tandem C2 domains, nuclear |
| Band | 14q32.12 |
| Other IDs | Vega: OTTHUMG00000171121 HGNC: HGNC:19859 Ensembl: ENSG00000165929 |
| Other names | C2CD1, Tac2-N, MTAC2D1, C14orf47 |
| Summary | None |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |